A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9059



Internal ID15534805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:91769092..91803109hg38UCSC Ensembl
Outerchr12:92162869..92196885hg19UCSC Ensembl
Outerchr12:90687000..90721016hg18UCSC Ensembl
Outerchr12:90665337..90699353hg17UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg385418
hg195418
hg185418
hg175418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817
Supporting Variants
SamplesNA12156
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv9059
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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